{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402518194",
  "communityStandardTitle": [
    "NM_005215.4(DCC):c.1789C>T (p.Arg597Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1711357",
        "active": true,
        "id": "COSM1711357"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3526364",
        "active": true,
        "id": "COSM3526364"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415605[alleleid]",
        "alleleId": 415605,
        "preferredName": "NM_005215.4(DCC):c.1789C>T (p.Arg597Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426741",
        "RCV": [
          "RCV000489691"
        ],
        "variationId": 426741
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.50734115C>T?assembly=hg19",
        "id": "chr18:g.50734115C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.53207745C>T?assembly=hg38",
        "id": "chr18:g.53207745C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307773",
        "rs": 1085307773
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 53207745,
          "referenceAllele": "C",
          "start": 53207744
        }
      ],
      "hgvs": [
        "NC_000018.10:g.53207745C>T",
        "CM000680.2:g.53207745C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 50734115,
          "referenceAllele": "C",
          "start": 50734114
        }
      ],
      "hgvs": [
        "NC_000018.9:g.50734115C>T",
        "CM000680.1:g.50734115C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 48988113,
          "referenceAllele": "C",
          "start": 48988112
        }
      ],
      "hgvs": [
        "NC_000018.8:g.48988113C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872574,
          "referenceAllele": "C",
          "start": 872573
        }
      ],
      "hgvs": [
        "NG_013341.1:g.872574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872574,
          "referenceAllele": "C",
          "start": 872573
        }
      ],
      "hgvs": [
        "NG_013341.2:g.872574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616206"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000442544.7:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389140.2:p.Arg597Ter",
        "hgvsWellDefined": "ENSP00000389140.2:p.Arg597_Phe1447delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755910",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442544.7:c.1789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005215.4:c.1789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389140.2:p.Arg597Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005206.2:p.Arg597Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000304775.12:c.1590C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1720,
          "referenceAllele": "C",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000412726.5:c.1720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397322.2:p.Arg574Ter",
        "hgvsWellDefined": "ENSP00000397322.2:p.Arg574_Phe1424delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000442544.6:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389140.2:p.Arg597Ter",
        "hgvsWellDefined": "ENSP00000389140.2:p.Arg597_Phe1447delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000581580.5:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464582.1:p.Arg252Ter",
        "hgvsWellDefined": "ENSP00000464582.1:p.Arg252_Val1076delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgThrValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValGluMetGluTrpValLysGlnTyrAlaIleSerTyrTyrProLeuLeuLeuProAlaSerSerPheSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645505354",
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "NM_005215.3:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005206.2:p.Arg597Ter",
        "hgvsWellDefined": "NP_005206.2:p.Arg597_Phe1447delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525843.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524145.1:p.Arg597Ter",
        "hgvsWellDefined": "XP_011524145.1:p.Arg597_Val1443delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValGluMetGluTrpValLysGlnTyrAlaIleSerTyrTyrProLeuLeuLeuProAlaSerSerPheSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525844.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524146.1:p.Arg252Ter",
        "hgvsWellDefined": "XP_011524146.1:p.Arg252_Phe1102delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525845.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524147.1:p.Arg597Ter",
        "hgvsWellDefined": "XP_011524147.1:p.Arg597_Gly1069delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnAspThrGlyValThrIleAsnLeuValAsnGluValLeuLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525846.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524148.1:p.Arg597Ter",
        "hgvsWellDefined": "XP_011524148.1:p.Arg597_Gly1049delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnAspThrGlyValThrIleAsnLeuValAsnGluValLeuLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525844.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524146.1:p.Arg252Ter",
        "hgvsWellDefined": "XP_011524146.1:p.Arg252_Phe1102delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_017025568.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881057.1:p.Arg597Ter",
        "hgvsWellDefined": "XP_016881057.1:p.Arg597_Phe1445delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgThrValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_017025569.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881058.1:p.Arg597Ter",
        "hgvsWellDefined": "XP_016881058.1:p.Arg597_Phe1427delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_017025570.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881059.1:p.Arg252Ter",
        "hgvsWellDefined": "XP_016881059.1:p.Arg252_Phe1102delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575876"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645505354",
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "NM_005215.4:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005206.2:p.Arg597Ter",
        "hgvsWellDefined": "NP_005206.2:p.Arg597_Phe1447delinsPheLeuAlaTyrAsnArgTyrGlyProGlyValSerThrAspAspIleThrValValThrLeuSerAspValProSerAlaProProGlnAsnValSerLeuGluValValAsnSerArgSerIleLysValSerTrpLeuProProProSerGlyThrGlnAsnGlyPheIleThrGlyTyrLysIleArgHisArgLysThrThrArgArgGlyGluMetGluThrLeuGluProAsnAsnLeuTrpTyrLeuPheThrGlyLeuGluLysGlySerGlnTyrSerPheGlnValSerAlaMetThrValAsnGlyThrGlyProProSerAsnTrpTyrThrAlaGluThrProGluAsnAspLeuAspGluSerGlnValProAspGlnProSerSerLeuHisValArgProGlnThrAsnCysIleIleMetSerTrpThrProProLeuAsnProAsnIleValValArgGlyTyrIleIleGlyTyrGlyValGlySerProTyrAlaGluThrValArgValAspSerLysGlnArgTyrTyrSerIleGluArgLeuGluSerSerSerHisTyrValIleSerLeuLysAlaPheAsnAsnAlaGlyGluGlyValProLeuTyrGluSerAlaThrThrArgSerIleThrAspProThrAspProValAspTyrTyrProLeuLeuAspAspPheProThrSerValProAspLeuSerThrProMetLeuProProValGlyValGlnAlaValAlaLeuThrHisAspAlaValArgValSerTrpAlaAspAsnSerValProLysAsnGlnLysThrSerGluValArgLeuTyrThrValArgTrpArgThrSerPheSerAlaSerAlaLysTyrLysSerGluAspThrThrSerLeuSerTyrThrAlaThrGlyLeuLysProAsnThrMetTyrGluPheSerValMetValThrLysAsnArgArgSerSerThrTrpSerMetThrAlaHisAlaThrThrTyrGluAlaAlaProThrSerAlaProLysAspLeuThrValIleThrArgGluGlyLysProArgAlaValIleValSerTrpGlnProProLeuGluAlaAsnGlyLysIleThrAlaTyrIleLeuPheTyrThrLeuAspLysAsnIleProIleAspAspTrpIleMetGluThrIleSerGlyAspArgLeuThrHisGlnIleMetAspLeuAsnLeuAspThrMetTyrTyrPheArgIleGlnAlaArgAsnSerLysGlyValGlyProLeuSerAspProIleLeuPheArgThrLeuLysValGluHisProAspLysMetAlaAsnAspGlnGlyArgHisGlyAspGlyGlyTyrTrpProValAspThrAsnLeuIleAspArgSerThrLeuAsnGluProProIleGlyGlnMetHisProProHisGlySerValThrProGlnLysAsnSerAsnLeuLeuValIleIleValValThrValGlyValIleThrValLeuValValValIleValAlaValIleCysThrArgArgSerSerAlaGlnGlnArgLysLysArgAlaThrHisSerAlaGlyLysArgLysGlySerGlnLysAspLeuArgProProAspLeuTrpIleHisHisGluGluMetGluMetLysAsnIleGluLysProSerGlyThrAspProAlaGlyArgAspSerProIleGlnSerCysGlnAspLeuThrProValSerHisSerGlnSerGluThrGlnLeuGlySerLysSerThrSerHisSerGlyGlnAspThrGluGluAlaGlySerSerMetSerThrLeuGluArgSerLeuAlaAlaArgArgAlaProArgAlaLysLeuMetIleProMetAspAlaGlnSerAsnAsnProAlaValValSerAlaIleProValProThrLeuGluSerAlaGlnTyrProGlyIleLeuProSerProThrCysGlyTyrProHisProGlnPheThrLeuArgProValProPheProThrLeuSerValAspArgGlyPheGlyAlaGlyArgSerGlnSerValSerGluGlyProThrThrGlnGlnProProMetLeuProProSerGlnProGluHisSerSerSerGluGluAlaProSerArgThrIleProThrAlaCysValArgProThrHisProLeuArgSerPheAlaAsnProLeuLeuProProProMetSerAlaIleGluProLysValProTyrThrProLeuLeuSerGlnProGlyProThrLeuProLysThrHisValLysThrAlaSerLeuGlyLeuAlaGlyLysAlaArgSerProLeuLeuProValSerValProThrAlaProGluValSerGluGluSerHisLysProThrGluAspSerAlaAsnValTyrGluGlnAspAspLeuSerGluGlnMetAlaSerLeuGluGlyLeuMetLysGlnLeuAsnAlaIleThrGlySerAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442544.7:c.1789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005215.4:c.1789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389140.2:p.Arg597Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005206.2:p.Arg597Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}